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Article

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Human mutation - 1 Jan 2013

Thompson Bryony A, Greenblatt Marc S, Vallee Maxime P, Herkert Johanna C, Tessereau Chloe, Young Erin L, Adzhubey Ivan A, Li Biao, Bell Russell, Feng Bingjian, Mooney Sean D, Radivojac Predrag, Sunyaev Shamil R, Frebourg Thierry, Hofstra Robert M W, Sijmons Rolf H, Boucher Ken, Thomas Alun, Goldgar David E, Spurdle Amanda B, Tavtigian Sean V

Abstract excerpt

Classification of rare missense substitutions observed during genetic testing for patient management is a considerable problem in clinical genetics. The Bayesian integrated evaluation of unclassified variants is a solution originally developed for BRCA1/2. Here, we take a step toward an analogous...

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mismatch Repair Endonuclease PMS2

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Source

Open in PubMed Open full text

Identifiers

PMID: 22949387
DOI: 10.1002/humu.22214
PMCID: PMC4318556

Genes

BRCA1
MLH1
MSH2
MSH6
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-22949387-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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